| Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 12 | 26336611 | 3 prime UTR variant | G/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 12 | 118145427 | 3 prime UTR variant | T/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.120 | 19 | 38287929 | missense variant | C/T | snv | 1.6E-03 | 1.9E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
25 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.160 | 12 | 118135862 | non coding transcript exon variant | T/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.120 | 19 | 11131631 | 3 prime UTR variant | G/C | snv | 0.82 | 0.80 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.120 | 11 | 69424973 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.882 | 0.120 | 12 | 26300350 | intron variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.120 | 9 | 79507370 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |